Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.S246delFs
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XIAP

NM_001167.4:p.S246delFs

Associated Papers

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM4_ESM.xls › phenotype_detail_novel

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."